How Important are Cardiac Electrical Abnormalities in Duchenne and Becker Muscular Dystrophy?

Abstract

Aim: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are neuromuscular diseases associated with progressive cardiac dysfunction. This study aims to determine the early markers of their cardiac involvement. Materials and Methods: This retrospective study was conducted with 26 boys with DMD-BMD (study group) diagnosed with genetic analysis. Healthy controls were 44 age-matched boys evaluated with electrocardiography (ECG), ambulatory Holter monitoring, and echocardiography (ECHO) to obtain a sport license. Heart rate variability (HRV) (SDNN, SDANN, SDNN index, Rmssd, pNN50), ECG (Heart rate, V1R/S, corrected QT, QRS-T angle, and parameters associated with ventricular repolarization heterogeneity) and ECHO parameters (ejection and shortening fraction, peak early and peak late diastolic velocities, tricuspid annular plane systolic excursion) of children with DMD and BMD were compared with healthy controls. The study group was also divided into “ambulatory” and “non-ambulatory” subgroups and differences in terms of cardiological parameters were evaluated between these subgroups. Results: ECG revealed shorter PR and higher V1R/S in the study group than in the control group (p<0.003 and p<0.01). Heart rate was higher in the study group with ambulatory Holter monitoring (p<0.01). There was no significant difference in ECHO parameters. Lower HRV values were found in the ambulatory subgroup than in the non-ambulatory subgroup (p<0.05). Conclusion: Significant alterations in ECG and HRV in dystrophinopathies were showed compared to healthy children of similar age. Thus, electrical abnormalities may be the earliest manifestation of the histopathological process conducive to the development of cardiac dysfunction.

Keywords

• Duchenne muscular dystrophy
• Becker muscular dystrophy
• Heart

Duchenne ve Becker Musküler Distrofi’de Kardiyak Elektriksel Anomaliler Ne Kadar Önemlidir?

Abstract

Amaç: Duchenne musküler distrofi (DMD) ve Becker musküler distrofi (BMD), ilerleyici kalp fonksiyon bozukluğunun da eşlik ettiği nöromusküler hastalıklardır. Bu çalışmada DMD ve BMD’de kardiyak tutulumun erken belirteçlerinin belirlenmesi amaçlanmıştır. Gereç ve Yöntem: Moleküler genetik tanı yöntemleri ile distrofin geninde hastalık nedeni mutasyon tespit edilmiş 26 DMD-BMD hastası ve 44 sağlıklı kontrol çalışmaya dahil edildi. Yaş uyumlu sağlıklı kontroller rutin spor lisans muayenesi için başvuranlar arasından seçildi. Tüm katılımcıların elektrokardiyografi (EKG) (Kalp hızı, V1R/S, QT, QRS-T açısı, ventriküler repolarizasyon heterojenliği ile ilişkili parametreler), ekokardiyografi (EKO) (ejeksiyon fraksiyonu, fraksiyonel kısalma, erken ve geç diyastolik tepe velosite, tricuspid annular plane systolic excursion) ve mevcut kalp hızı değişkenliği (KHD) (SDNN, SDANN, SDNN index, Rmssd, pNN50) ölçümleri geriye dönük olarak kaydedilerek hasta ve kontrol grubu karşılaştırıldı. Ayrıca hasta grubu “ambulatuvar” ve “non-ambulatuvar” olarak yeniden gruplandırıldı ve kardiyak parametreler bu alt gruplar arasında da kıyaslandı. Bulgular: EKG verilerinden hasta grubunda kontrollere göre PR daha kısa, V1R/S yüksek bulundu (p<0,003, p<0,01). Kalp hızı, Holter monitorizasyonu ile hasta grubunda yüksek saptandı (p<0,01). EKO verilerinde her iki grup arasında fark saptanmadı. KHD verileri kıyaslandığında parametreler ambulatuar grupta non-ambulatuvar gruba kıyasla daha düşüktü (p<0,05). Sonuç: Bu çalışmada, distrofinopatilerde EKG ve KHD’de benzer yaştaki sağlıklı kontrollere göre anlamlı değişiklikler gösterilmiştir. Elektriksel anormallikler, kardiyak disfonksiyon gelişiminde histopatolojik sürecin en erken belirtisi olabilir.

Keywords

• Duchenne Musküler Distrofi
• Becker Musküler Distrofi
• Kalp

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